Caraballo Roberto Horacio, Fejerman Natalio, Bernardina Bernardo Dalla, Ruggieri Victor, Cersósimo Ricardo, Medina Carlos, Pociecha Juan
Servicio de Neurología, Hospital de Ninos "Prof. Dr. Juan P. Garrahan", Buenos Aires, 2, Argentina.
Epileptic Disord. 2003 Jun;5(2):109-13.
Spasms are defined as epileptic seizures characterized by brief axial contraction, in flexion, extension or mixed, symmetric or asymmetric, lasting from a fraction of a second to 1-2s, and are associated with a slow-wave transient or sharp and slow-wave complex, followed or not by voltage attenuation. Epileptic spasms usually appear in clusters and are age-dependent. This type of epileptic spasms associated with the particular EEG pattern, hypsar rhythmia, constitutes the basis for the diagnosis of West syndrome. The question is, how to nosologically define those patients who clearly present epileptic spasms in clusters without modified or typical hypsarrhythmia and with or without focal paroxysmal discharges on the interictal EEG. In the present series, the four patients show that epileptic spasms in clusters may occur in infancy, without hypsarrhythmia. They all presented the following features: normal neuropsychological development before onset of epileptic spasms, clusters of epileptic spasms, focal clinical and/or EEG abnormalities, normal neuroradiological imaging, neurometabolic investigations and karyotypes. In three of the patients, seizures were refractory to AEDs. Epileptic spasms in clusters without hypsarrhythmia that start in the first year of life represent a subtype of infantile spasms that generally are refractory to AEDs. It is not yet clear whether it should be considered as a variant of West syndrome or not [Published with Video sequence].
痉挛被定义为以短暂的轴向收缩为特征的癫痫发作,收缩可为屈曲、伸展或混合形式,对称或不对称,持续时间从几分之一秒到1 - 2秒,并与慢波瞬变或尖慢复合波相关,随后可能伴有或不伴有电压衰减。癫痫性痉挛通常成簇出现且与年龄有关。这种与特定脑电图模式——高峰节律紊乱相关的癫痫性痉挛,构成了韦斯特综合征诊断的基础。问题在于,如何从疾病分类学上定义那些在发作间期脑电图上明显呈现成簇癫痫性痉挛、无变异型或典型高峰节律紊乱且有或无局灶性阵发性放电的患者。在本系列研究中,这4例患者表明,成簇的癫痫性痉挛可在婴儿期出现,且无高峰节律紊乱。他们均具有以下特征:癫痫性痉挛发作前神经心理发育正常、癫痫性痉挛成簇发作、有局灶性临床和/或脑电图异常、神经影像学检查正常、神经代谢检查及核型正常。其中3例患者的发作对抗癫痫药物治疗无效。出生后第一年起病的无高峰节律紊乱的成簇癫痫性痉挛代表婴儿痉挛的一种亚型,通常对抗癫痫药物治疗无效。目前尚不清楚它是否应被视为韦斯特综合征的一种变异型[附视频序列发表]。